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Items: 71

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063608, LOC130063609
+484 more
Copy number gain
See cases
GPathogenic
ACP5, ANGPTL8
+434 more
Copy number loss
See cases
GPathogenic
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
LOC112543445, LOC112543446
+355 more
Copy number loss
See cases
GPathogenic
LOC129391074, LOC130063625
+351 more
Copy number gain
See cases
GPathogenic
ADGRE2, ADGRE3
+318 more
Copy number loss
See cases
GPathogenic
ADGRE2, ADGRE3
+180 more
Copy number loss
See cases
GPathogenic
ADGRL1, ADGRL1-AS1
+87 more
Copy number loss
See cases
GUncertain significance
MRI1
(R7C)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
MRI1
(G11D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(K23R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(R26H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(I40V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
Microsatellite
(intron variant)
not provided
GBenign
MRI1
Microsatellite
(intron variant)
not provided
GLikely benign
MRI1
Microsatellite
(intron variant)
not provided
GLikely benign
MRI1
Microsatellite
(intron variant)
not provided
GLikely benign
MRI1
Microsatellite
(intron variant)
not provided
GLikely benign
LOC130063724, MRI1
(A52S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(G71E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(R80L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(M96V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(A97G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MRI1
(R109W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(E118K)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
MRI1
Deletion
(splice donor variant)
not provided
GUncertain significance
MRI1
(G147R)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MRI1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
MRI1
(R154G)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MRI1
(R154W)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MRI1
(A156V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MRI1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
MRI1
(K161T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MRI1
(A174T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(A176T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(Y178C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(R174W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(G179R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(R210Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(P175S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(A194T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(D181N +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(M188V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
MRI1
(A189V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MRI1
(S194* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
MRI1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MRI1
(T209R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(A228T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(V231G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(I248N +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(R253G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(R271Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(G263W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
MRI1
(D284N +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(G289S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(I290V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(R303Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
MRI1
(T326N +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(D318N +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
(P367H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MRI1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
BEST2, BRME1
+45 more
Copy number loss
not provided
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
ACP5, ADGRE5
+82 more
Copy number gain
See cases
GUncertain significance
ADGRE5, ADGRL1
+64 more
Copy number loss
See cases
GPathogenic
ADGRE5, ADGRL1
+30 more
Copy number loss
See cases
GLikely pathogenic
ADGRL1, ANGPTL6
+153 more
Copy number gain
See cases
GPathogenic
MIR24-2, C19orf53
+8 more
Copy number gain
See cases
GUncertain significance
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